A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002158



Internal ID19193924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148929889..148977675hg38UCSC Ensembl
Outerchr1:144906799..144954600hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3847787
hg1947802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151226
Supporting Variants
SamplesKWB1
Known GenesLOC100288142, NBPF9, PDE4DIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002158
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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